A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344476



Internal ID21002029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211661601..211664700hg38UCSC Ensembl
chr2:212526326..212529425hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083333
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344476
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer